Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

The T cell receptor (TCR) signaling pathway is an ensemble of numerous proteins that are crucial for an adequate immune response. Disruption of any protein involved in this pathway leads to severe immunodeficiency and unfavorable clinical outcomes. Here, we describe an infant with severe immunodefic...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Lev, Atar, Lee, Yu Nee, Sun, Guangping, Hallumi, Enas, Simon, Amos J., Zrihen, Keren S., Levy, Shiran, Beit Halevi, Tal, Papazian, Maria, Shwartz, Neta, Somekh, Ido, Levy-Mendelovich, Sarina, Wolach, Baruch, Gavrieli, Ronit, Vernitsky, Helly, Barel, Ortal, Javasky, Elisheva, Stauber, Tali, Ma, Chi A., Zhang, Yuan, Amariglio, Ninette, Rechavi, Gideon, Hendel, Ayal, Yablonski, Deborah, Milner, Joshua D., Somech, Raz
Formato: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2020
Assuntos:
Brief Definitive Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690938/
https://ncbi.nlm.nih.gov/pubmed/33231617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20201062
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